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PGM1 (phosphoglucomutase 1)

Identity

Other aliasCDG1T
GSD14
HGNC (Hugo) PGM1
LocusID (NCBI) 5236
Atlas_Id 47415
Location 1p31.3  [Link to chromosome band 1p31]
Location_base_pair Starts at 63623216 and ends at 63660246 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PGM1 (1p31.3) / CPSF2 (14q32.12)PGM1 (1p31.3) / PGM1 (1p31.3)XG (Xp22.33) / PGM1 (1p31.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PGM1   8905
Cards
Entrez_Gene (NCBI)PGM1  5236  phosphoglucomutase 1
AliasesCDG1T; GSD14
GeneCards (Weizmann)PGM1
Ensembl hg19 (Hinxton)ENSG00000079739 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000079739 [Gene_View]  chr1:63623216-63660246 [Contig_View]  PGM1 [Vega]
ICGC DataPortalENSG00000079739
TCGA cBioPortalPGM1
AceView (NCBI)PGM1
Genatlas (Paris)PGM1
WikiGenes5236
SOURCE (Princeton)PGM1
Genetics Home Reference (NIH)PGM1
Genomic and cartography
GoldenPath hg38 (UCSC)PGM1  -     chr1:63623216-63660246 +  1p31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PGM1  -     1p31.3   [Description]    (hg19-Feb_2009)
EnsemblPGM1 - 1p31.3 [CytoView hg19]  PGM1 - 1p31.3 [CytoView hg38]
Mapping of homologs : NCBIPGM1 [Mapview hg19]  PGM1 [Mapview hg38]
OMIM171900   
Gene and transcription
Genbank (Entrez)AK293298 AK294186 AK298505 AK300100 AK312254
RefSeq transcript (Entrez)NM_001172818 NM_001172819 NM_002633
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PGM1
Cluster EST : UnigeneHs.1869 [ NCBI ]
CGAP (NCI)Hs.1869
Alternative Splicing GalleryENSG00000079739
Gene ExpressionPGM1 [ NCBI-GEO ]   PGM1 [ EBI - ARRAY_EXPRESS ]   PGM1 [ SEEK ]   PGM1 [ MEM ]
Gene Expression Viewer (FireBrowse)PGM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5236
GTEX Portal (Tissue expression)PGM1
Human Protein AtlasENSG00000079739-PGM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36871   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP36871  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP36871
Splice isoforms : SwissVarP36871
PhosPhoSitePlusP36871
Domaine pattern : Prosite (Expaxy)PGM_PMM (PS00710)   
Domains : Interpro (EBI)A-D-PHexomutase_a/b/a-I    A-D-PHexomutase_a/b/a-I/II/III    A-D-PHexomutase_a/b/a-II    A-D-PHexomutase_a/b/a-III    A-D-PHexomutase_C    A-D-PHexomutase_CS    Alpha-D-phosphohexomutase_SF   
Domain families : Pfam (Sanger)PGM_PMM_I (PF02878)    PGM_PMM_II (PF02879)    PGM_PMM_III (PF02880)    PGM_PMM_IV (PF00408)   
Domain families : Pfam (NCBI)pfam02878    pfam02879    pfam02880    pfam00408   
Conserved Domain (NCBI)PGM1
DMDM Disease mutations5236
Blocks (Seattle)PGM1
PDB (SRS)5EPC    5F9C    5HSH   
PDB (PDBSum)5EPC    5F9C    5HSH   
PDB (IMB)5EPC    5F9C    5HSH   
PDB (RSDB)5EPC    5F9C    5HSH   
Structural Biology KnowledgeBase5EPC    5F9C    5HSH   
SCOP (Structural Classification of Proteins)5EPC    5F9C    5HSH   
CATH (Classification of proteins structures)5EPC    5F9C    5HSH   
SuperfamilyP36871
Human Protein Atlas [tissue]ENSG00000079739-PGM1 [tissue]
Peptide AtlasP36871
HPRD01389
IPIIPI00219526   IPI00217872   IPI01011356   IPI00955977   
Protein Interaction databases
DIP (DOE-UCLA)P36871
IntAct (EBI)P36871
FunCoupENSG00000079739
BioGRIDPGM1
STRING (EMBL)PGM1
ZODIACPGM1
Ontologies - Pathways
QuickGOP36871
Ontology : AmiGOmagnesium ion binding  phosphoglucomutase activity  phosphoglucomutase activity  phosphoglucomutase activity  protein binding  extracellular region  cytoplasm  cytosol  cytosol  glycogen biosynthetic process  glycogen biosynthetic process  glycogen catabolic process  glucose metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  actin cytoskeleton  galactose catabolic process  galactose catabolic process  neutrophil degranulation  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBImagnesium ion binding  phosphoglucomutase activity  phosphoglucomutase activity  phosphoglucomutase activity  protein binding  extracellular region  cytoplasm  cytosol  cytosol  glycogen biosynthetic process  glycogen biosynthetic process  glycogen catabolic process  glucose metabolic process  glucose metabolic process  gluconeogenesis  glycolytic process  actin cytoskeleton  galactose catabolic process  galactose catabolic process  neutrophil degranulation  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : KEGGGlycolysis / Gluconeogenesis    Pentose phosphate pathway    Galactose metabolism    Purine metabolism    Starch and sucrose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkPGM1
Atlas of Cancer Signalling NetworkPGM1
Wikipedia pathwaysPGM1
Orthology - Evolution
OrthoDB5236
GeneTree (enSembl)ENSG00000079739
Phylogenetic Trees/Animal Genes : TreeFamPGM1
HOVERGENP36871
HOGENOMP36871
Homologs : HomoloGenePGM1
Homology/Alignments : Family Browser (UCSC)PGM1
Gene fusions - Rearrangements
Tumor Fusion PortalPGM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPGM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PGM1
dbVarPGM1
ClinVarPGM1
1000_GenomesPGM1 
Exome Variant ServerPGM1
ExAC (Exome Aggregation Consortium)ENSG00000079739
GNOMAD BrowserENSG00000079739
Genetic variants : HAPMAP5236
Genomic Variants (DGV)PGM1 [DGVbeta]
DECIPHERPGM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPGM1 
Mutations
ICGC Data PortalPGM1 
TCGA Data PortalPGM1 
Broad Tumor PortalPGM1
OASIS PortalPGM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPGM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPGM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch PGM1
DgiDB (Drug Gene Interaction Database)PGM1
DoCM (Curated mutations)PGM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PGM1 (select a term)
intoGenPGM1
Cancer3DPGM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM171900   
Orphanet21686   
DisGeNETPGM1
MedgenPGM1
Genetic Testing Registry PGM1
NextProtP36871 [Medical]
TSGene5236
GENETestsPGM1
Target ValidationPGM1
Huge Navigator PGM1 [HugePedia]
snp3D : Map Gene to Disease5236
BioCentury BCIQPGM1
ClinGenPGM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5236
Chemical/Pharm GKB GenePA33242
Clinical trialPGM1
Miscellaneous
canSAR (ICR)PGM1 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePGM1
EVEXPGM1
GoPubMedPGM1
iHOPPGM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:28:31 CET 2017

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